| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63480479C>T | CA501178005 | ACE | c.798C>T (p.Tyr266=) c.*197C>T (n.*197C>T) n.832C>T c.249C>T (p.Tyr83=) c.325C>T (p.Arg109Trp) c.-55C>T (n.-55C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63480479C>A | CA400544702 | ACE | c.798C>A (p.Tyr266Ter) c.*197C>A (n.*197C>A) n.832C>A c.249C>A (p.Tyr83Ter) c.325C>A (p.Arg109=) c.-55C>A (n.-55C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63480479C>G | CA127777 | ACE | c.798C>G (p.Tyr266Ter) c.*197C>G (n.*197C>G) n.832C>G c.249C>G (p.Tyr83Ter) c.325C>G (p.Arg109Gly) c.-55C>G (n.-55C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63480479C= | CA2269941489 | ACE | c.798C= (p.Tyr266=) c.*197C= (n.*197C=) n.832C= c.249C= (p.Tyr83=) c.325C= (p.Arg109=) c.-55C= (n.-55C=) | dbSNP |